ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Abstract Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat catalogs. Recent discoveries emphasize the n...

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Bibliographic Details
Main Authors: Egor Dolzhenko, Mark F. Bennett, Phillip A. Richmond, Brett Trost, Sai Chen, Joke J. F. A. van Vugt, Charlotte Nguyen, Giuseppe Narzisi, Vladimir G. Gainullin, Andrew M. Gross, Bryan R. Lajoie, Ryan J. Taft, Wyeth W. Wasserman, Stephen W. Scherer, Jan H. Veldink, David R. Bentley, Ryan K. C. Yuen, Melanie Bahlo, Michael A. Eberle
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Genome Biology
Subjects:
Repeat expansions
Short tandem repeats
Whole-genome sequencing data
Genome-wide analysis
Friedreich ataxia
Myotonic dystrophy type 1
Online Access:http://link.springer.com/article/10.1186/s13059-020-02017-z

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